Review of patient-reported outcome measures for use in myotonic dystrophy type 1 patients

2017 ◽  
Vol 56 (1) ◽  
pp. 86-92 ◽  
Author(s):  
Tara Symonds ◽  
Jason A. Randall ◽  
Patrick Campbell
Keyword(s):  
Myotonic Dystrophy ◽  
Outcome Measures ◽  
Patient Reported Outcome Measures ◽  
Patient Reported Outcome ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Patient Reported

scholarly journals What Happened with Muscle Force, Dynamic Stability And Falls?- a 10-Year Longitudinal Follow-Up in Adults with Myotonic Dystrophy Type 1

2021 ◽  
pp. 1-10
Author(s):  
Elisabet Hammarén ◽  
Lena Kollén
Keyword(s):  
Myotonic Dystrophy ◽  
Dynamic Stability ◽  
Muscle Force ◽  
Step Test ◽  
Maximum Speed ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Patient Reported ◽  
Leg Muscle

Background: Individuals with myotonic dystrophy type 1 (DM1) are known to stumble and fall, but knowledge is scarce regarding dynamic stability in this disorder. Objective: To describe disease progress regarding muscle force, dynamic stability and patient reported unintentional falls during a ten-year period, in individuals with DM1. Methods: Quantification of isometric muscle force in four leg muscle groups and assessment of Timed 10-meter-walk in maximum speed (T10max), Timed Up&Go (TUG) and Step test (STEP) were performed at three occasions in a DM1 cohort, together with self-reported falls. Results: Thirty-four people (m/f:11/23, age:50.2 + /–9.4) participated. The muscle force loss after ten years was large in the distal ankle muscles. A steeper force decrease was seen in most muscles between year five and ten compared to the former five-year period. Males reported more falls than females, 91%vs 35%had fallen last year. A positive correlation, ρ= 0.633, p <  0.001, was shown between walking time (T10max) and number of falls. Frequent fallers were only seen among those with slower walk (T10max >  10seconds), and fewer steps in the STEP test (STEP≤5 steps). Conclusions: A diminishing leg muscle strength and worse dynamic stability were seen in the group, with a steeper decrease in the latter five years. Weak ankle dorsiflexors, a slower walk and difficulties to lift the forefoot were related to frequent falls.

Report of the first Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-1) international workshop

2013 ◽  
Vol 23 (12) ◽  
pp. 1056-1068 ◽  
Author(s):  
Cynthia Gagnon ◽  
Giovanni Meola ◽  
Luc J. Hébert ◽  
Jack Puymirat ◽  
Luc Laberge ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Outcome Measures ◽  
International Workshop ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

scholarly journals Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1)

Neurology ◽  
2012 ◽  
Vol 79 (4) ◽  
pp. 348-357 ◽  
Author(s):  
C. Heatwole ◽  
R. Bode ◽  
N. Johnson ◽  
C. Quinn ◽  
W. Martens ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Patient Reported

scholarly journals Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1

2021 ◽  
Vol 7 (2) ◽  
pp. e572
Author(s):  
Stephan Wenninger ◽  
Sarah A. Cumming ◽  
Kristina Gutschmidt ◽  
Kees Okkersen ◽  
Aura Cecilia Jimenez-Moreno ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Outcome Measures ◽  
Clinical Symptoms ◽  
Control Group ◽  
Mcgill Pain Questionnaire ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Link Type ◽  
Cardiac Symptoms

ObjectiveTo assess the association between variant repeat (VR) interruptions in patients with myotonic dystrophy type 1 (DM1) and clinical symptoms and outcome measures after cognitive behavioral therapy (CBT) intervention.MethodsAdult patients with DM1 were recruited within the OPTIMISTIC trial (NCT02118779). Disease-related history, current clinical symptoms and comorbidities, functional assessments, and disease- and health-related questionnaires were obtained at baseline and after 5 and 10 months. After genetic analysis, we assessed the association between the presence of VR interruptions and clinical symptoms' long-term outcomes and compared the effects of CBT in patients with and without VR interruptions. Core trial outcome measures analyzed were: 6-minute walking test, DM1-Activ-C, Checklist Individual Strength Fatigue Score, Myotonic Dystrophy Health Index, McGill-Pain questionnaire, and Beck Depression inventory—fast screen. Blood samples for DNA testing were obtained at the baseline visit for determining CTG length and detection of VR interruptions.ResultsVR interruptions were detectable in 21/250 patients (8.4%)—12 were assigned to the standard-of-care group (control group) and 9 to the CBT group. Patients with VR interruptions were significantly older when the first medical problem occurred and had a significantly shorter disease duration at baseline. We found a tendency toward a milder disease severity in patients with VR interruptions, especially in ventilation status, mobility, and cardiac symptoms. Changes in clinical outcome measures after CBT were not associated with the presence of VR interruptions.ConclusionsThe presence of VR interruptions is associated with a later onset of the disease and a milder phenotype. However, based on the OPTIMISTIC trial data, the presence of VR interruptions was not associated with significant changes on outcome measures after CBT intervention.Trial Registration InformationClinicalTrials.govNCT02118779.

Effects and Acceptability of an Individualized Home-Based 10-Week Training Program in Adults with Myotonic Dystrophy Type 1

2021 ◽  
Vol 8 (1) ◽  
pp. 137-149
Author(s):  
Isabelle Lessard ◽  
Sébastien Gaboury ◽  
Cynthia Gagnon ◽  
Kévin Bouchard ◽  
Kévin Chapron ◽  
...  
Keyword(s):  
Training Program ◽  
Myotonic Dystrophy ◽  
Outcome Measures ◽  
Functional Mobility ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Walk Test ◽  
Adult Form ◽  
Home Based

Background: Muscle weakness is a cardinal sign of myotonic dystrophy type 1, causing important functional mobility limitations and increasing the risk of falling. As a non-pharmacological, accessible and safe treatment for this population, strength training is an intervention of choice. Objective: To document the effects and acceptability of an individualized semi-supervised home-based exercise program on functional mobility, balance and lower limb strength, and to determine if an assistive training device has a significant impact on outcomes. Methods: This study used a pre-post test design and men with the adult form of DM1 were randomly assigned to the control or device group. The training program was performed three times a week for 10 weeks and included three exercises (sit-to-stand, squat, and alternated lunges). Outcome measures included maximal isometric muscle strength, 10-Meter Walk Test, Mini-BESTest, 30-Second Chair Stand Test and 6-minute walk test. Results: No outcome measures showed a significant difference, except for the strength of the knee flexors muscle group between the two assessments. All participants improved beyond the standard error of measurement in at least two outcome measures. The program and the device were well accepted and all participants reported many perceived improvements at the end of the program. Conclusions: Our results provide encouraging data on the effects and acceptability of a home-based training program for men with the adult form of DM1. These programs would reduce the financial burden on the health system while improving the clinical services offered to this population.

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